Natural history of Christianson syndrome von Schroer, Richard J., Holden, Kenton R., Tarpey, Patrick S., Matheus, Maria Giselle, Griesemer, David A., Friez, Michael J., Fan, Jane Zheng, Simensen, Richard J., Strømme, Petter, Stevenson, Roger E., Stratton, Michael R., Schwartz, Charles E.

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Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders von Boccuto, Luigi, Lauri, Maria, Sarasua, Sara M, Skinner, Cindy D, Buccella, Daniela, Dwivedi, Alka, Orteschi, Daniela, Collins, Julianne S, Zollino, Marcella, Visconti, Paola, Dupont, Barb, Tiziano, Danilo, Schroer, Richard J, Neri, Giovanni, Stevenson, Roger E, Gurrieri, Fiorella, Schwartz, Charles E

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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures von Eichler, Evan E, Sharp, Andrew J, Mefford, Heather C, Li, Kelly, Baker, Carl, Skinner, Cindy, Stevenson, Roger E, Schroer, Richard J, Novara, Francesca, De Gregori, Manuela, Ciccone, Roberto, Broomer, Adam, Casuga, Iris, Wang, Yu, Xiao, Chunlin, Barbacioru, Catalin, Gimelli, Giorgio, Bernardina, Bernardo Dalla, Torniero, Claudia, Giorda, Roberto, Regan, Regina, Murday, Victoria, Mansour, Sahar, Fichera, Marco, Castiglia, Lucia, Failla, Pinella, Ventura, Mario, Jiang, Zhaoshi, Cooper, Gregory M, Knight, Samantha J L, Romano, Corrado, Zuffardi, Orsetta, Chen, Caifu, Schwartz, Charles E

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Autistic Disorder: A 20 Year Chronicle von Skinner, Cindy, Pauly, Rini, Skinner, Steven A., Schroer, Richard J., Simensen, Richard J., Taylor, Harold A., Friez, Michael J., DuPont, Barbara R., Stevenson, Roger E.

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Alterations in CDH15 and KIRREL3 in Patients with Mild to Severe Intellectual Disability von Bhalla, Kavita, Luo, Yue, Buchan, Tim, Beachem, Michael A., Guzauskas, Gregory F., Ladd, Sydney, Bratcher, Shelly J., Schroer, Richard J., Balsamo, Janne, DuPont, Barbara R., Lilien, Jack, Srivastava, Anand K.

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Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions von Monnens, Yenthe, Theodoropoulou, Anastasia, Rosier, Karen, Bhalla, Kritika, Mahy, Alexia, Vanhoutte, Roeland, Meulemans, Sandra, Cavani, Edoardo, Antanasijevic, Aleksandar, Lemmens, Irma, Lee, Jennifer A, Spellicy, Catherine J, Schroer, Richard J, Maselli, Ricardo A, Laverty, Chamindra G, Agostinis, Patrizia, Pagliarini, David J, Verhelst, Steven, Marcaida, Maria J, Rochtus, Anne, Dal Peraro, Matteo, Creemers, John Wm

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Expanded newborn screening identifies maternal primary carnitine deficiency von Schimmenti, Lisa A., Crombez, Eric A., Schwahn, Bernd C., Heese, Bryce A., Wood, Timothy C., Schroer, Richard J., Bentler, Kristi, Cederbaum, Stephen, Sarafoglou, Kiki, McCann, Mark, Rinaldo, Piero, Matern, Dietrich, di San Filippo, Cristina Amat, Pasquali, Marzia, Berry, Susan A., Longo, Nicola

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Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome von Schroer, Richard J., Beaudet, Arthur L., Shinawi, Marwan, Sahoo, Trilochan, Patel, Ankita, Sun, Qin, Skinner, Cindy, Stevenson, Roger E.

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A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A von Jiang, Yong-hui, Sahoo, Trilochan, Michaelis, Ron C., Bercovich, Dani, Bressler, Jan, Kashork, Catherine D., Liu, Qian, Shaffer, Lisa G., Schroer, Richard J., Stockton, David W., Spielman, Richard S., Stevenson, Roger E., Beaudet, Arthur L.

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Epimerase-Deficiency Galactosemia Is Not a Binary Condition von Openo, Kimberly K., Schulz, Jenny M., Vargas, Claudia A., Orton, Corey S., Epstein, Michael P., Schnur, Rhonda E., Scaglia, Fernando, Berry, Gerard T., Gottesman, Gary S., Ficicioglu, Can, Slonim, Alfred E., Schroer, Richard J., Yu, Chunli, Rangel, Vanessa E., Keenan, Jennifer, Lamance, Kerri, Fridovich-Keil, Judith L.

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Diagnosis, Treatment, and Long-Term Outcomes of Late-Onset (Type III) Multiple Acyl-CoA Dehydrogenase Deficiency von Pollard, Laura M., Williams, Nolan R., Espinoza, Lesby, Wood, Tim C., Spector, Elaine B., Schroer, Richard J., Holden, Kenton R.

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X-Linked Mental Retardation with Seizures and Carrier Manifestations Is Caused by a Mutation in the Creatine-Transporter Gene (SLC6A8) Located in Xq28 von Hahn, Kimberly A., Salomons, Gajja S., Tackels-Horne, Darci, Wood, Tim C., Taylor, Harold A., Schroer, Richard J., Lubs, Herbert A., Jakobs, Cornelis, Olson, Rick L., Holden, Kenton R., Stevenson, Roger E., Schwartz, Charles E.

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Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement von Kapferer-Seebacher, Ines, Pepin, Melanie, Werner, Roland, Aitman, Timothy J., Nordgren, Ann, Stoiber, Heribert, Thielens, Nicole, Gaboriaud, Christine, Amberger, Albert, Schossig, Anna, Gruber, Robert, Giunta, Cecilia, Bamshad, Michael, Björck, Erik, Chen, Christina, Chitayat, David, Dorschner, Michael, Schmitt-Egenolf, Marcus, Hale, Christopher J., Hanna, David, Hennies, Hans Christian, Heiss-Kisielewsky, Irene, Lindstrand, Anna, Lundberg, Pernilla, Mitchell, Anna L., Nickerson, Deborah A., Reinstein, Eyal, Rohrbach, Marianne, Romani, Nikolaus, Schmuth, Matthias, Silver, Rachel, Taylan, Fulya, Vandersteen, Anthony, Vandrovcova, Jana, Weerakkody, Ruwan, Yang, Margaret, Pope, F. Michael, Aleck, Kirk, Banki, Zoltan, Dudas, Joszef, Dumfahrt, Herbert, Haririan, Hady, Hartsfield, James K., Kagen, Charles N., Lindert, Uschi, Meitinger, Thomas, Posch, Wilfried, Pritz, Christian, Ross, David, Schroer, Richard J., Wick, Georg, Wildin, Robert, Wilflingseder, Doris, Byers, Peter H., Zschocke, Johannes

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Autism and macrocephaly von Stevenson, Roger E, Schroer, Richard J, Skinner, Cindy, Fender, Don, Simensen, Richard J

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Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements von Sahoo, Trilochan, Shaw, Chad A., Young, Andrew S., Whitehouse, Nathan L., Schroer, Richard J., Stevenson, Roger E., Beaudet, Arthur L.

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Clinical utility of the X-chromosome array von Zarate, Yuri A., Dwivedi, Alka, Bartel, Frank O., Bellomo, M. Allison, Cathey, Sara S., Champaigne, Neena L., Clarkson, L. Kate, DuPont, Barbara R., Everman, David B., Geer, Joseph S., Gordon, Barbara C., Lichty, Angie W., Lyons, Michael J., Rogers, R. Curtis, Saul, Robert A., Schroer, Richard J., Skinner, Steven A., Stevenson, Roger E.

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Genetic syndromes among individuals with mental retardation von Stevenson, Roger E., Procopio-Allen, Ashley M., Schroer, Richard J., Collins, Julianne S.

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Absence of MeCP2 mutations in patients from the South Carolina autism project von Lobo-Menendez, Fe, Sossey-Alaoui, Khalid, Bell, Jennifer M., Copeland-Yates, Susan A., Plank, Sara M., Sanford, Stewart O., Skinner, Cindy, Simensen, Richard J., Schroer, Richard J., Michaelis, Ron C.

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The HOXA1 A218G polymorphism and autism: Lack of association in white and black patients from the South Carolina Autism Project von COLLINS, Julianne S, SCHROER, Richard J, BIRD, Jeffrey, MICHAELIS, Ron C

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Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions von Monnens, Yenthe, Theodoropoulou, Anastasia, Rosier, Karen, Bhalla, Kritika, Mahy, Alexia, Vanhoutte, Roeland, Meulemans, Sandra, Cavani, Edoardo, Antanasijevic, Aleksandar, Lemmens, Irma, Lee, Jennifer A, Spellicy, Catherine J, Schroer, Richard J, Maselli, Ricardo A, Laverty, Chamindra G, Agostinis, Patrizia, Pagliarini, David J, Verhelst, Steven, Marcaida, Maria J, Rochtus, Anne, Dal Peraro, Matteo, Creemers, John W.M

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